List of variants in gene ALPL reported as pathogenic by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00015
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	rs121918011	0.00006
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	rs763159520	0.00001
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	rs1408325840
NM_000478.6(ALPL):c.522del (p.Ser175fs)	rs750174638

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